Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods.

IF 0.7 4区医学 Q4 PATHOLOGY Fetal and Pediatric Pathology Pub Date : 2025-01-01 Epub Date: 2025-01-06 DOI:10.1080/15513815.2024.2447082

Merve Koç Yekedüz, Gözde Nur Yağci, İlknur Sürücü Kara, Merve Evgin, Engin Kose, Fatma Tuba Eminoğlu

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Abstract

Inherited metabolic disorders (IMDs) pose various obstetric challenges. In this study investigates the prenatal and perinatal profiles of pregnancies affected by IMDs and examines their obstetric outcomes. The most frequently observed antepartum issues identified among 996 patients with IMDs were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders are associated with increased incidence of oligohydramnios (p = 0.010), IUGR (p < 0.001), microcephaly (p < 0.001) and intrauterine cardiac issues (p = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial (p < 0.001) and lysosomal/peroxisomal diseases (p = 0.037) when compared to the other IMD groups. The mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses (p = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.

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产前、产时和产后遗传性代谢紊乱新生儿及其母亲面临的挑战。

遗传性代谢紊乱（IMDs）对产科构成各种挑战。本研究调查了受imd影响的妊娠的产前和围产期概况，并检查了其产科结局。在996例imd患者中，最常见的产前问题是宫内生长受限（IUGR）、宫内小头畸形和羊水过少。值得注意的是，线粒体疾病与羊水过少发生率增加相关（p = 0.010）， IUGR （p = 0.002）。此外，与其他IMD组相比，线粒体组的宫内和出生时面部畸形发生率显著升高（p p = 0.037）。新生儿患有线粒体疾病的母亲在先前怀孕期间出现的并发症明显多于其他诊断的母亲（p = 0.040）。通过促进及时干预和治疗，及早发现危险因素和并发症可以大大改善母亲和婴儿的预后。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.